Literature DB >> 25080166

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

J B Vincent1, T Jamil, M A Rafiq, Z Anwar, M Ayaz, A Hameed, T Nasr, F Naeem, N A Khattak, M Carter, I Ahmed, P John, E Wiame, D M Andrade, E V Schaftingen, A Mir, M Ayub.   

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Year:  2014        PMID： 25080166     DOI： 10.1111/cge.12445

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  On the phenotypic spectrum of serine biosynthesis defects.

Authors:  Ayman W El-Hattab; Ranad Shaheen; Jozef Hertecant; Hassan I Galadari; Badi S Albaqawi; Amira Nabil; Fowzan S Alkuraya
Journal:  J Inherit Metab Dis       Date:  2016-03-10       Impact factor: 4.982

2.  Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Authors:  Heather M Byers; Robin L Bennett; Emily A Malouf; Michael D Weiss; Jie Feng; C Ronald Scott; Suman Jayadev
Journal:  JIMD Rep       Date:  2015-11-21

3.  Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.

Authors:  Yu Shen; Yun Peng; Pengcheng Huang; Yilei Zheng; Shumeng Li; Kaiyan Jiang; Meihong Zhou; Jianwen Deng; Min Zhu; Daojun Hong
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772

4.  A Novel Assay for Phosphoserine Phosphatase Exploiting Serine Acetyltransferase as the Coupling Enzyme.

Authors:  Francesco Marchesani; Erika Zangelmi; Stefano Bruno; Stefano Bettati; Alessio Peracchi; Barbara Campanini
Journal:  Life (Basel)       Date:  2021-05-26
  4 in total

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